Diseases of immune dysregulation: Difference between revisions
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==Classification== | ==Classification== | ||
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===Hemophagocytic Lymphohistiocytosis (HLH) & EBV Susceptibility=== | ===Hemophagocytic Lymphohistiocytosis (HLH) & EBV Susceptibility=== | ||
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{{familytree | | | | | | | | | | | | | |`| J01 | | | | | |J01=PRKCD Deficiency }} | {{familytree | | | | | | | | | | | | | |`| J01 | | | | | |J01=PRKCD Deficiency }} | ||
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===Syndromes with Autoimmunity and Others=== | ===Syndromes with Autoimmunity and Others=== | ||
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{{familytree | | | | | | | | | | | |`| K01 | | | | | | | | | |K01=Prolidase deficiency. PEPD, AR }} | {{familytree | | | | | | | | | | | |`| K01 | | | | | | | | | |K01=Prolidase deficiency. PEPD, AR }} | ||
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==Chediak Higashi Syndrome== | ==Chediak Higashi Syndrome== | ||
* Chediak Higashi syndrome is caused by [[homozygous]] or compound heterogenous [[autosomal recessive]] [[mutation]] in the [[Lysosome|lysosomal]] trafficking [[gene]] (LYST:606897) on [[chromosome]] 1q42. | * Chediak Higashi syndrome is caused by [[homozygous]] or compound heterogenous [[autosomal recessive]] [[mutation]] in the [[Lysosome|lysosomal]] trafficking [[gene]] (LYST:606897) on [[chromosome]] 1q42. | ||
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==References== | ==References== | ||
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Revision as of 17:52, 11 October 2018
|
Immunodeficiency Main Page |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Zahir Ali Shaikh, MD[2], Anmol Pitliya, M.B.B.S. M.D.[3]
Overview
Classification
| Diseases of Immune Dysregulation | |||||||||||||||||||||||||
| (A) Hemophagocytic lymphohistiocytosis (HLH) & EBV susceptibility | (B) Syndromes with Autoimmunity and Others | ||||||||||||||||||||||||
Hemophagocytic Lymphohistiocytosis (HLH) & EBV Susceptibility
| Diseases Of Immune Dysregulation: (A) Hemophagocytic Lymphohistiocytosis (HLH) & EBV Susceptibility | |||||||||||||||||||||||||||||||||||||||||||||
| Hemophagocytic Lymphohistiocytosis(HLH) | Susceptibility to EBV | ||||||||||||||||||||||||||||||||||||||||||||
| Hypopigmentation | Familial Hemophagocytic Lymphohistiocytosis Syndromes | EBV Associated with HLH | |||||||||||||||||||||||||||||||||||||||||||
| Chediak Higashi Syndrome:LYST | Perforin Deficiency(FHL2) | RASGRP1 Deficiency | XL,XLP1.SH2DIA | ||||||||||||||||||||||||||||||||||||||||||
| Griscelli Syndrome type2:RAB27a | UNCBD/Munc13-4 deficiency(FHL3) | CD70 Deficiency | XL,XLP2,XIAP | ||||||||||||||||||||||||||||||||||||||||||
| Hermansky Pudlak Syndrome type2:AP3B1 | Syntaxin II Deficiency(FHL4) | CTPS1 Deficiency | AR, CD27 Deficiency | ||||||||||||||||||||||||||||||||||||||||||
| Hermansky Pudlak Syndrome type10 | STXBP2/Munc18-2 Deficiency | RLTPR (CARMIL2) Deficiency | FAAP24 Deficiency | ||||||||||||||||||||||||||||||||||||||||||
| ITK Deficiency | |||||||||||||||||||||||||||||||||||||||||||||
| MAGT1 Deficiency | |||||||||||||||||||||||||||||||||||||||||||||
| PRKCD Deficiency | |||||||||||||||||||||||||||||||||||||||||||||
Syndromes with Autoimmunity and Others
| Diseases of Immune Dysregulation: (B) Syndromes with Autoimmunity and Others | |||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromes with Autoimmunity | Immune Dysregulation with Colitis: IBD, Normal Tc & Bc | ||||||||||||||||||||||||||||||||||||||||||||||||
| Increased CD4-CD8-TCR alpha/beta (Double Negative T cells) | IL10 Deficiency, IL10, AR | IL10Ra Deficiency, IL10RA, AR | IL10Rb Deficiency, IL10RB, RA | NFATS haploinsufficiency, NAFTS, AD | |||||||||||||||||||||||||||||||||||||||||||||
| Yes | Occassionally | NO: Regulatory T cells Defects? | |||||||||||||||||||||||||||||||||||||||||||||||
| ALPS, Autoimmune Lymphoproliferative Syndrome | LRBA Deficiency | NO | YES | ||||||||||||||||||||||||||||||||||||||||||||||
| ALPS-FAS TNFRSF, AD or AR | STAT3 GOF mutation,STAT3 AD | Autoimmune Polyendocrinopathy with candidiasis & ectodermal dystrophy: APECED (APS-1) | IPEX Immune dysregulation, Polyendocrinopathy,enteropathy,X-linked FOXP-3 | ||||||||||||||||||||||||||||||||||||||||||||||
| ALPS-FASLG TNFSF6, AR | ITCH Deficiency, ITCH, AR | CD25 Deficiency, IL2RA, AR | |||||||||||||||||||||||||||||||||||||||||||||||
| ALPS-Caspase10, Casp10, AD | ZAP70 combined hylomorphic and activation mutations, ZAP70, AR | CTLA4 deficiency (ALPSV) CTLA4, AD | |||||||||||||||||||||||||||||||||||||||||||||||
| ALPS-Caspase8, Casp8, AR | Tripeptidyl-peptidase II deficiency, TPP2, AR | BACH2 deficiency. BACH2, AD | |||||||||||||||||||||||||||||||||||||||||||||||
| FADD deficiency, FADD, AR | JAK1 GOF, JAK1, AD | ||||||||||||||||||||||||||||||||||||||||||||||||
| Prolidase deficiency. PEPD, AR | |||||||||||||||||||||||||||||||||||||||||||||||||
Chediak Higashi Syndrome
- Chediak Higashi syndrome is caused by homozygous or compound heterogenous autosomal recessive mutation in the lysosomal trafficking gene (LYST:606897) on chromosome 1q42.
- It is characterized by photophobia, nystagmus, partial albinism, neutropenia, abnormal susceptibility to infections and malignant lymphoma, large eosinophilic peroxidase positive inclusion bosides in myeloblasts and promyelocytes of bone marrow.
- The most effective treatment is hematopoeitic stem cell transplantation.
- For more information on Chediak Higashi syndrome, click here.